ClinVar Miner

Submissions for variant NC_000002.11:g.(?_26486228)_(26486367_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582619 SCV005063234 pathogenic Mitochondrial trifunctional protein deficiency 2023-11-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the HADHB gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in HADHB are known to be pathogenic (PMID: 9259266, 12754706). A similar copy number variant has been observed in individual(s) with abnormal newborn screening and cardiomyopathy (PMID: 22494545). For these reasons, this variant has been classified as Pathogenic.

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